Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
Arch Neurol
; 62(4): 659-61, 2005 Apr.
Article
em En
| MEDLINE
| ID: mdl-15824269
ABSTRACT
BACKGROUND:
Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families.OBJECTIVE:
To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene.DESIGN:
Using molecular genetic approaches, we identified the underlying molecular defect in a patient with LS with a complex I defect. PATIENT The proband was a child who displayed the clinical features of LS.RESULTS:
Muscle biochemistry results showed a complex I defect of the mitochondrial respiratory chain. Sequencing analysis of the mitochondrial DNA-encoded ND genes, the nuclear DNA-encoded NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, and NDUFAB1 genes, and the complex I assembly factor CIA30 gene revealed a novel homozygous L231V mutation (c.691C-->G) in the NDUFS1 gene. The parents were heterozygous carriers of the L231V mutation.CONCLUSIONS:
Identifying nuclear mutations as a cause of respiratory chain disorders will enhance the possibility of prenatal diagnosis and help us understand how molecular defects can lead to complex I deficiency.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Doença de Leigh
/
Complexo I de Transporte de Elétrons
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Arch Neurol
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Espanha